- D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.2008 | First Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | First Faculty of Medicine
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | First Faculty of Medicine
- Adenylosuccinate lyase deficiency2015 | First Faculty of Medicine
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency2011 | First Faculty of Medicine
- Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots2015 | First Faculty of Medicine
- Adenylosuccinate lyase deficiency in a Czech girl and two siblings1994 | Second Faculty of Medicine
- Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency2010 | First Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | Publication without faculty affiliation
- Neonatal presentation of adenylosuccinate lyase deficientyPublication without faculty affiliation
- D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.2008 | Publication without faculty affiliation
- Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature2014 | First Faculty of Medicine
- Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families2007 | Faculty of Physical Education and Sport
- Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency2005 | First Faculty of Medicine
- Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families2007 | First Faculty of Medicine
- Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer2019 | First Faculty of Medicine
- The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation2019 | First Faculty of Medicine
- Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients2000 | First Faculty of Medicine
- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency2012 | First Faculty of Medicine
- Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP2010 | First Faculty of Medicine
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | First Faculty of Medicine
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders2013 | First Faculty of Medicine
- CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation2016 | First Faculty of Medicine
- Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.2000 | Faculty of Physical Education and Sport
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | First Faculty of Medicine
- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | First Faculty of Medicine
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | First Faculty of Medicine
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | First Faculty of Medicine